Severe, Prolonged Neonatal Hyperbilirubinaemia and Recurrent Hypoglycaemia: Can this be Galactosaemia?
Abstract
Summary: A case of prolonged severe hyperbilirubinaemia associated with persistent hypoglycaemia, features of proximal renal tubular defect and failure to thrive in a male preterm, low birth weight infant who was admitted at the age of 52 hours, is reported. Although the management was hindered by lack of diagnostic facilities, the positive outcome of a therapeutic trial with lactose-free diet was suggestive of galactosaemia. This case is being reported to create awareness of this clinical condition.
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